Articles tagged with Genetic Analysis
A new DNA benchmark, developed by NIST and collaborators, enables more accurate detection of genetic variants linked to diseases such as spinal muscular atrophy. The benchmark, based on HiFi sequencing technology, helps labs and clinics sequence genes with high accuracy, critical for disease diagnosis and treatment.
A study found that humans have evolved less sensitive noses compared to other primates, with genetic variations affecting scent perception. Researchers screened the genomes of over 1,000 Han Chinese people and an ethnically diverse population to identify novel genetic variants associated with odor detection.
A new DNA metabarcoding technique identifies nearly 3,000 insect species in European forests, revealing that forest dieback affects insect community composition and ecological functions. The study highlights the importance of preserving environmental features supporting biodiversity.
Researchers use environmental DNA to monitor aquatic species near hydropower facilities, while also developing a novel method for printing full-strength steel components using additive manufacturing. These advancements could lead to more efficient and cost-effective monitoring and renewable energy production.
A study led by Clemson University geneticist Allison Hickman has identified 11 high-priority genes associated with uterine cancer. These genes are potential targets for drug therapies, offering new hope for effective treatment options.
Researchers discovered all-female, forest-dwelling drywood termite colonies in Japan and found they evolved through human-assisted hybridization, leading to stronger offspring and double breeding. This can outcompete incumbent species, posing a risk to homeowners with drywood termite infestations.
A new analysis links genetic variants associated with high blood levels of lipoprotein A to a higher risk of prostate cancer, including advanced or early-age-onset cases. The study found no significant associations for other blood lipids.
The use of polygenic risk scores in pre-implantation genetic testing is unproven and can lead to discrimination and stigmatization. ESHG argues that there is no evidence PRSs can predict disease likelihood in unborn children, making their application premature.
A new species of angel shark, Squatina mapama, has been identified in the Central American Caribbean, shedding light on the region's biodiversity. Genetic analyses reveal distinct characteristics from other related species, emphasizing the importance of forensic science in understanding cryptic species within the genus.
Researchers developed unprecedented insights into the natural and commercial flow of fish, highlighting the importance of inclusive approaches to fisheries management and conservation. The study's findings indicate a strong connection between larval dispersal and catch distribution in Hawaii, emphasizing the need for community-based ma...
A new study published in Mammalian Biology analyzed the life history data of 13 North Atlantic right whales using genetic samples and photo identification. The researchers found that four calves previously thought to be dead survived, revealing a significant variation in calf separation time from mothers and physical development.
Epidemiologists have developed a new blood test, DunedinPACE, to measure biological aging. The test uses DNA methylation marks to track changes in organ-system integrity over time, predicting future disease and mortality.
A new machine learning model, RefMap, has identified 690 genetic risk factors for motor neurone disease, a five-fold increase from previous estimates. This discovery could lead to the development of new treatments and personalized medicine for patients with MND.
Researchers confirm that Chevalier barley came from a single plant, analyzing seed samples older than 150 years. The study reveals how the single plant's genetic signature was preserved and used to create modern malting barley varieties.
Researchers at Karolinska Institutet have identified a specific gene variant that protects against severe COVID-19 infection, found in individuals of African ancestry. The study analyzed 2,787 hospitalized patients and 130,997 people from six cohort studies, revealing an 80% prevalence of the protective variant among Africans.
Researchers have identified a previously unknown gene, goldentouch, responsible for the golden coloration in Midas cichlids. The gene, found on chromosome 11, is present in two variants: one associated with dark coloration and the other with orange/yellow coloration.
A study suggests that nearly 60 percent of the risk associated with coronary artery disease may be explained by changes in hundreds of genes working together in networks across several organs. Fat processing hormones may play a central role in coordinating this activity.
Researchers from the Crump Lab created a series of atlases to study the molecular decisions of cranial neural crest cells, identifying genetic signs that point to specific destinies. Their findings reveal a new approach to understanding head development and regeneration in vertebrates.
Researchers at Penn State developed a new risk score system that uses genetic data to predict obesity in young children. The scores, called polygenic risk scores, can be easily interpreted and have been shown to be effective in identifying children most at risk for developing obesity.
Researchers found fingerprints influenced by genes responsible for limb development, shedding light on phenotypical traits in humans. The study identifies 43 genome regions associated with fingerprint patterns and suggests a link between dermatoglyphic patterns and congenital genetic disorders.
A new study led by Mount Sinai researchers found that microglia may play a critical role in some cases of brain disease, and provides a comprehensive guide for future studies. The study identified two new genes linked to brain disorders, including Alzheimer's and Parkinson's diseases.
A new study provides a detailed timeline of mammal evolution, confirming that modern placental mammal groups postdate the K-Pg extinction. The researchers used a novel computational approach to analyse a large genomic dataset and answer a long-standing question about mammal origins.
A new study found that changes in specific genes contribute to the roughly 400 sudden unexplained deaths in children aged one year and older. Nearly 9% of the analyzed DNA codes had genetic changes in genes regulating calcium function, which can cause arrhythmias and seizures, increasing the risk of sudden death.
Researchers are exploring how an engineered adeno-associated virus (AAV) can compensate for missing protein or swap out genetic mutations that cause vision problems. AAV has been found to be beneficial and is being used as a tool to deliver genes that work as they should.
Scientists found that seven genes associated with bright-light vision are absent in burrowing snakes, demonstrating extensive vision gene loss over millions of years. This challenges the hypothesis that all modern snakes evolved from extreme burrowers, suggesting a different evolutionary path for these subterranean snakes.
Researchers at UNC Lineberger Comprehensive Cancer Center have developed a novel way to classify breast cancers into 12 distinct biological groups using both genetic and pathologic data. This classification method has the potential to aid future research efforts and enable faster translation of molecular findings into clinical use.
Researchers at the University of Missouri have developed a free online resource that speeds up data analysis of human genomes three times faster than current methods. This enables scientists to see how an individual's genome makes them susceptible to different diseases in different ways, ultimately reducing associated costs and increas...
A recent study uses machine learning to rapidly discover bacterial isolates with antifungal properties, identifying promising new compounds for crop protection. The approach analyzes thousands of microbial genomes at once, allowing researchers to identify novel beneficial microbes and bypass traditional screening tactics.
A Michigan Medicine study combined genetic samples from patients of different ethnic backgrounds, identifying two new psoriasis genetic signals. The inclusion of South Asian subjects allowed researchers to pinpoint several genetic variations within HLA genes that are likely to play a causal role in psoriasis.
Researchers developed a kinetic hypothesis governing the evolution of the Last Universal Common Ancestor (LUCA) based on simulation experiments. They discovered a kinetic factor that governs the flow of chemical reactions in the TCA cycle, validating their hypothesis for deep-branching bacteria and archaea.
A recent study published in Canine Medicine and Genetics reveals that most dog breeds are highly inbred, with an average inbreeding rate of 25% or sharing the same genetic material with a full sibling. This high level of inbreeding contributes to increased disease and healthcare costs throughout a breed's lifespan.
Researchers used clam fossils to create a comprehensive evolutionary tree over hundreds of millions of years, revealing that a basic assumption can significantly distort the picture of which species are destroyed during mass extinctions. The study found that assuming lineages always split into two new species can push the origins of ne...
A study published in Proceedings of the Royal Society B reveals that a rare alga, Chlorokybus, contains at least five distinct species previously thought to be a single entity. Genetic analysis confirmed these findings, shedding new light on the biodiversity and evolutionary pathways of this key algal group.
A new study argues that the Justinianic Plague had a devastating impact on the Mediterranean world, and its effects were felt in England. Genetic discoveries suggest that bubonic plague may have reached England before its first recorded case in the Mediterranean, via a currently unknown route.
A study with lab-grown mouse cells reveals that lamin C plays a key role in maintaining the structural network under the cell's nucleus, ensuring proper DNA organization. This finding has significant implications for diagnosing and treating genetic disorders linked to DNA disorganization, such as progeria and muscular dystrophy.
Researchers used DNA analysis to confirm traditional Tsleil-Waututh Nation fishing practices that promoted sustainable management and conservation. These practices, which selectively harvested male salmon, allowed for larger harvests while maintaining healthy populations and successful spawning.
A new study by USC researchers uses a genetic technology to analyze gene expression signatures of individual cancer cells from patients with leukemia. The findings show that cancer cells with distinct gene expression profiles tend to grow in different organs, while those with specific genes are more resistant to chemotherapy.
Researchers identified 23 genes contributing to congenital heart disease, including 12 previously unknown, using a new algorithm called M-DATA. This method combines genetic data from people with related conditions, increasing the power to identify risk factors and potentially leading to improved treatments.
A recent study found that whale sharks in Panama may originate from the Arabian Gulf and Western Indian Ocean, highlighting their ability to travel long distances. This discovery underscores the need for transboundary conservation measures like marine corridors to protect this endangered species.
A man has been confirmed as the great-grandson of Sitting Bull using ancient DNA extracted from his scalp lock. The new technique analyzes autosomal DNA to establish familial relationships between living and historical individuals, with potential applications in forensic investigations.
Scientists at the University of Colorado School of Medicine have identified specific genetic biomarkers in blood samples that can indicate the severity of COVID-19. The study's findings suggest that these signals can be used to monitor SARS-CoV-2 status and predict clinical outcomes.
A preclinical study found that blocking the Bach1 protein slowed brain cell deterioration in Parkinson's disease. The researchers identified a potent inhibitor of Bach1 called HPPE, which protected cells from inflammation and oxidative stress, and showed promise as a potential therapeutic target.
A new list of 546 expert-curated pathogenic variants in 84 genes has been developed for use in next-generation sequencing (NGS) genetic testing. This curated resource addresses the complexities of large assays and provides a scalable solution for test developers and laboratories.
A commonly used diuretic pill may help treat Alzheimer's disease in individuals with the apolipoprotein E gene APOE4. Researchers analyzed data from brain tissue samples and found that those taking bumetanide had a significantly lower prevalence of Alzheimer's disease compared to those not taking the drug.
Researchers found that wild and hatchery coho salmon demonstrate different genetic markers for negative assortment, a common finding in mating. They are now trying to emulate the natural mating of coho salmon in a hatchery environment using genetic profile information.
The NIH BRAIN Initiative Cell Census Network has published an atlas of cell types and neuronal wiring diagram for the mammalian primary motor cortex, derived from detailed studies of mice, monkeys, and humans. This comprehensive resource provides a foundation for further study of cell types in the rest of the brain.
A researcher is collecting and genetically analyzing species found in the region's watersheds to understand their historical genetic connections. The project aims to rewrite the book on Guam's native diadromous organisms and potentially discover new species.
Scientists use statistical mechanics to explore the phenomenon of gene regulation's rhythmic changes in expression levels across the genome. They found that DNA molecules' changing shape is crucial to gene expression, potentially reconciling major theories on the topic.
Researchers found that ambient UVB radiation before COVID-19 infection was strongly associated with reduced hospitalization and death. The study suggests that vitamin D may protect against severe COVID-19 disease and death, particularly in individuals who do not produce enough vitamin D through sun exposure.
A large-scale trial will assess the effects of cocoa supplements and multivitamins on aging, including inflammatory factors and genetic changes. Researchers aim to determine if cocoa consumption can reduce age-related health issues such as heart disease, stroke, and cancer.
A new study explains how genetic islands can occur in marine molluscs by studying the limpet Nacella concinna. The researchers found that an entire generation of offspring descended from a limited number of parents and were carried by ocean currents to one location.
The USC Institute is launching a $3 million global consortium study to analyze brain imaging, genetics, and clinical data from 20 countries. The study aims to understand how Parkinson's disease progresses in the brain and explore genetic factors contributing to risk.
A recent study found that individuals with COVID-19 are at a higher risk of developing phlebitis and thrombophlebitis, as well as blood clots in the leg and lung. The study also identified associations between general COVID-19 susceptibility and increased blood clot events and circulatory diseases.
Researchers discovered a distinct difference in gene expression in women who underwent preterm labor compared to those at full term. The findings suggest new directions for studying preterm labor and potentially effective treatments.
Researchers have uncovered thousands of new regulatory regions that control disease-linked genes, providing a significant step forward for genomics-driven precision medicine. This new resource, available worldwide, could help identify markers revealing which patients will benefit most from specific treatments.
Silent mutations, which don't change protein sequences, hold diagnostic value in predicting cancer types and patient survival. The study analyzed over 10,000 cancer genomes and found that combining information from silent and non-silent mutations improved classification and prognostication up to 17% and 5%, respectively.
A new study from Uppsala University found that genetic tests are more accurate than traditional blood tests in determining the risk of cardiovascular diseases. The study analyzed data from 500,000 subjects and discovered a significant link between blood group genetics and coagulation proteins.
Researchers sequenced the bowfin genome to investigate its unique combination of ancestral and advanced features. The study found unexpected insights into diverse aspects of bowfin biology, including the absence of key genes in its pectoral fin.
International genetic research projects struggle with GDPR interpretation due to ambiguous rules on personal data, consent, and data transfer outside the EU/EEA. Measures to reduce these challenges are proposed, including a more genetics-sensitive approach with regulators.
A team of scientists led by Assistant Professor Lae-Hyeon Cho identified a single mutation in the gene that codes for cytidine triphosphate synthase (CTPS), an enzyme crucial for early endosperm development. The study showed that overexpressing CTPS in genetically modified rice plants results in a larger endosperm, opening up opportuni...